Article
Advances in lafora progressive myoclonus epilepsy.
Current neurology and neuroscience reports - 1 Sept 2007
Delgado-Escueta Antonio V
Abstract excerpt
Abstract Lafora progressive myoclonus epilepsy is an autosomal recessive, fatal, generalized polyglucosan storage disorder that occurs in childhood or adolescence with stimulus sensitive epilepsy (resting and action myoclonias, grand mal, and absence), dementia, ataxia and rapid neurologic deterioration. Mutations in EPM2A/laforin cause 58% of cases and mutations in EPM2B/malin cause 35% of cases. Accumulating...
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